by Randi Hagerman, M.D.
Professor of Pediatrics, University of Colorado Health Sciences Center
and The Children's Hospital
Denver, Colorado

What is fetal alcohol syndrome?

Fetal alcohol syndrome is a disorder caused by alcohol exposure in the womb. Alcohol
interferes with brain development in the fetus. It also causes unusual physical
features in the fetus, including facial structure abnormalities and bone growth
deficiencies.

What causes fetal alcohol syndrome?

Alcohol is a "teratogen," meaning it causes birth defects. When a mother drinks
alcohol during her pregnancy, the alcohol in the bloodstream enters the fetal circulation
and interferes with cell growth and migration. This particularly affects early brain
development in the fetus. The growth of bones and organs, including the heart and
the kidneys, also can be significantly affected by alcohol exposure in the womb.

Who gets fetal alcohol syndrome?

A fetus exposed to significant amounts of alcohol may be affected with fetal alcohol
syndrome; whereas, a fetus exposed to alcohol for limited times during pregnancy
may not be as severely affected or show evidence of fetal alcohol syndrome. Both
male and female fetuses can be affected.

The disorder affects individuals differently; some individuals have mild behavioral
problems or intellectual deficits, while other individuals have more severe complications
with bone and organ development. Exposure in the second and third trimester of pregnancy
usually leads to full fetal alcohol syndrome; however, exposure in the first trimester
may interfere with brain structure. Usually, if a mother stops drinking during the
first trimester of pregnancy, it is likely that the fetus will not be significantly
affected with fetal alcohol syndrome.

How does alcohol cause disease?

What are the common findings?

Most children affected with full fetal alcohol syndrome have characteristic facial
abnormalities, including a small opening of the eye, underdevelopment of the mid-part
of the face, a thin upper lip, and a flat "philtrum" (the part of the face between
the upper lip and the bottom of the nose). In addition, individuals may have poor
growth of the mandible or the upper jaw. The base of the nose may be underdeveloped,
and the nose may be shorter than normal. Alcohol also may cause poor growth of the
head so that the head circumference is smaller than normal. In addition, these individuals
may have a short stature, and are usually thin.

Alcohol also causes dysfunction of the central nervous system, which may include
mental retardation or learning disabilities. Hyperactivity, with a short attention
span and poor impulse control, are very common. Depression, anxiety, and panic attacks,
along with psychotic thinking, including delusions or hallucinations, also are relatively
common, particularly in adolescence and adulthood.

Structural brain changes are not uncommon in individuals affected by fetal alcohol
syndrome. Poor development of the "corpus collosum," the band of fibers in the brain
that connects the left and the right side of the brain, is common. In addition,
the "cerebellum," an older area of the brain, may be underdeveloped. Rarely, other
more severe brain abnormalities may occur. A limited number of individuals with
fetal alcohol syndrome also may experience seizures, particularly in childhood.

Organs may be significantly affected by alcohol exposure in the womb, to include
the following:

Kidneys: May often be small or underdeveloped

Heart: Can have a defect in the wall between the atria or the ventricles, or more severe malformations

Eyes: Abnormalities of the vessels in the retina, strabismus (lazy eye), or underdevelopment of the eyeball

How is fetal alcohol syndrome diagnosed?

Exposure to alcohol in the womb causes a wide range of abnormalities. The most severe
level is Fetal Alcohol Syndrome (FAS). FAS must have a confirmed history of maternal
alcohol exposure. For a full diagnosis of FAS, the patient must have the characteristic
facial abnormalities, in addition to growth retardation, i.e., a low birth weight
for gestational age or height/weight growth parameters less than the 10th percentile.

There also must be evidence of central nervous system neurodevelopmental abnormalities,
such as small head size, structural brain abnormalities, or neurological hard or
soft signs. Such signs include impaired fine motor skills, a sensory neural hearing
loss, poor tandem walking, or poor hand/eye coordination.

Individuals also may be diagnosed with Partial Fetal Alcohol Syndrome (PFAS). A
diagnosis of PFAS is confirmed by maternal alcohol exposure, in addition to some
of the characteristic facial features, growth retardation, central nervous system
neurodevelopmental abnormalities, or a complex pattern of behavioral or cognitive
abnormalities.

Typically, these abnormalities are inconsistent with the child's development level,
and cannot be explained by family background or environment. These features can
include the following: learning difficulties; deficits in school performance; poor
impulse control; problems in social perception; deficits in higher level expressive
and receptive language development; poor capacity for abstraction; specific deficits
in mathematical skills; or problems in memory, attention, or judgment.

Another alcohol exposure disorder is Alcohol Related Birth Defects (ARBD). ARBD
requires the presence of congenital abnormalities, including malformations in the
cardiac system, the skeletal system, the kidney system, the eyes, or the auditory
system.

The Alcohol Related Neurodevelopmental Disorder (ARND) requires central nervous
system neurodevelopmental abnormalities or a complex pattern of behavioral or cognitive
abnormalities, including learning disabilities and attention deficit problems. ARND
is the mildest form of fetal alcohol syndrome.

Usually, individuals have behavioral problems, such as hyperactivity or learning
disabilities, but do not show abnormal facial features, which are typical of alcohol
exposure. There is animal and human research indicating that abnormalities can occur
in the brain, leading to learning problems or behavioral difficulties, without having
abnormal facial features.

How is fetal alcohol syndrome treated?

At the time of birth, newborns exposed to significant levels of alcohol may have
severe withdrawal symptoms. In approximately 33% of the cases, seizures may occur.
Medication, such as phenobarbital, can be given at the time of birth to control
the seizures; however, for many infants, medications are not necessary to treat
withdrawal symptoms. It is important to wrap the baby tightly, to dim the lights,
to reduce the noise level to avoid overstimulation, to feed the baby frequently,
and to massage the baby to help relaxation.

It is possible that the baby may have significant malformations at the time of birth,
such as a cleft lip or a cleft palate, and, occasionally, even a neural tube defect
can be related to alcohol exposure in the womb. The baby may have problems with
feeding and abdominal distention related to alcohol withdrawal. Help with oral feeding
may be obtained from an occupational therapist.

It also is important to treat the alcoholism of the mother. A treatment program-including
advocacy and psychological support for the mother, help with obtaining services
and entitlements, parent skills training, crisis intervention, guidance and feedback,
general encouragement, and a substance abuse program-is very beneficial.

Infants and preschoolers with fetal alcohol syndrome disorders should be enrolled
in a developmental program that has both language and motor therapy. Hyperactivity
and distractibility, which are associated with Attention Deficit Hyperactivity Disorder
(ADHD), often arises in preschool. Initially, behavioral techniques should be used
to control hyperactivity, both at home and at school. Tantrums and aggression also
may occur in preschool. If behavioral interventions are not adequate, then medication
may be helpful, even in preschool. Useful medications include clonidine (to decrease
hyperarousal) or stimulant medication, such as dextroamphetamine or methylphenidate.

There is some evidence that dextroamphetamine may be more effective than methylphenidate
for children with ADHD. Sleep disturbances also may occur, and the "Baby Go To Sleep
Tape" may be helpful. Medication, such as clonidine, can be used at bedtime. Melatonin,
which is the natural sleep hormone, also may be beneficial.

For the school-age child with a fetal alcohol syndrome disorder, deficits in language
and motor development also may continue, and may require individualized speech and
language therapy and occupational therapy. Some children overreact to stimuli or
have sensory motor integration problems. This can worsen hyperactive and tantrum
behavior, and should be treated by a sensory integration occupational therapy program.
Most children with fetal alcohol syndrome require special education support. A learning
disability teacher can use a multi-sensory approach for teaching academic skills,
such as reading or math.

Computers may enhance academic learning and language skills for children with fetal
alcohol syndrome. Computer programs may help with visual spatial perceptual skills.
Such programs as "KidPix," which enhances drawing and graphics, or "Blocks in Motion,"
which focuses on visual spatial processing, may be beneficial. Additionally, such
programs as "Oregon Trails," "Interactive Journeys," and "Where in the World is
Carmen Sandiego?" use problem solving skills through reading and listening cues,
and are helpful for academic progress in math and reading. Programs that enhance
writing skills, such as word prediction software, can expand written language abilities.

School-age children with fetal alcohol syndrome usually have problems with ADHD.
Stimulant medication, such as dextroamphetamine (Adderall and Dexedrine) or methylphenidate
(Ritalin), can be helpful in this age group.

Children who are affected by alcohol exposure in the womb should have a detailed
psychological assessment that documents their intellectual abilities or IQ, as well
as emotional difficulties. If significant emotional problems, such as anxiety, depression,
or mood swings occur, then ongoing counseling should be helpful. Sometimes, if significant
anxiety or depression exists, medication, such as Prozac or Zoloft, may be helpful.

If mood swings are a problem, then mood-stabilizing medication, such as Tegretol,
Depakote, or risperidone, can be helpful. Usually, medication to treat emotional
or behavioral problems work best when combined with counseling by a psychologist
or a mental health professional.

What are the complications?

The main complications associated with FAS, PFAS, or ARND are the secondary disabilities
that are prominent in adolescence and adulthood. There is a high rate of mental
health problems, and 94% of individuals experience these difficulties. The combination
of mental health problems, in addition to a high rate of substance abuse, can lead
to legal problems.

In a large study of over 400 individuals with fetal alcohol syndrome disorders,
conducted in Seattle by Dr. Streissguth and her colleagues, it was found that 32%
of adolescents and 42% of adults were jailed for a crime. Alcohol problems also
occurred in 42% of adults. This high rate of social problems demands more intensive
intervention in childhood to avoid these secondary disabilities.

Individuals also may suffer from complications related to medications. For instance,
stimulant medications can decrease appetite and interfere with normal growth when
weight loss occurs. Careful monitoring of blood levels and liver function studies
are required with some of the mood stabilizers, because they may decrease the white
blood cell count or irritate the liver.

How are the complications of fetal alcohol syndrome prevented?

Careful medical follow-up, particularly when individuals are treated with medication,
is necessary. When taking medication, individuals should visit their doctor at least
two to three times a year.

The prevention of secondary disabilities is a more complicated issue, and it requires
intensive treatment from early childhood. Long-term counseling in adolescence and
early adulthood, in addition to more intensive vocational training with a job skill
trainer, is beneficial. Early education regarding the complications of drug and
alcohol use also is important. If these problems develop, an intensive substance
abuse program is necessary.

What research is being done?

Research is being conducted regarding the prevention of fetal alcohol syndrome.
There is a massive public health program to educate women regarding the problems
associated with alcohol use when they are pregnant.

Very little research has been performed regarding the treatment of those individuals
who are affected by fetal alcohol syndrome. There is a great need for controlled
research regarding psychopharmacological interventions and educational interventions.
Animal research has suggested that cholinergic drugs may be beneficial for treating
hyperactivity and cognitive deficits; however, these, and other new drugs, have
not yet been studied in humans.

Research regarding innovative computer programs that enhance learning, such as the
"Fast Forward" program, using a computerized slowing of speech to improve auditory
processing deficits, may be helpful. However, these studies also have yet to be
conducted.

Dr. Hagerman received her M.D. from Stanford Medical School and completed her pediatric
residency at Stanford and at the University of California San Diego. She is now
a Professor of Pediatrics at the University of Colorado Health Sciences Center and
Co-Section Head of Developmental and Behavioral Pediatrics.

Her research interests are in Fragile X Syndrome, Fetal Alcohol Syndrome, organic
causes of ADHD and behavioral phenotypes.

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